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Down's Syndrome with Familial G/G Translocation

Published online by Cambridge University Press:  01 August 2014

K. Méhes
K. Méhes*
Affiliation:
Dept. of Pediatrics, University Medical School, Pécs, Hungary
*
Dept. of Pediatrics, University Medical School, Pécs, Hungary

Summary

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Cytogenetic examinations of a 7/12-year-old girl and her parents revealed a familial G/G translocation.

46 chromosomes in the mitoses of the mongoloid child and only 45 chromosomes in those of the apparently normal father could be observed. The analysis of karyotypes revealed a balanced G/G translocation in the father and a G/G translocation mongolism in the probanda. Dermatoglyphic patterns of both the child and her father showed some features characteristic of Down's syndrome.

The mother's karyotype proved to be normal (46, XX).

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 18 , Issue 1 , January 1969 , pp. 86 - 91
Copyright
Copyright © The International Society for Twin Studies 1969

References

Beckman, L., Gustavson, K. H., Norring, A. (1965). Dermal configurations in the diagnosis of the Down's Syndrome: an attempt at a simplified Scoring Method. Acta Genet. Basel, 15: 3.Google Scholar
Dallapiccola, B., Ricci, N. (1967). I dermatoglifi nella sindrome di Down tipica ed atipica. Acta Genet. Med. Gemellol., 16: 384.CrossRefGoogle Scholar
Forssman, H., Lehmann, O. (1962). Chromosome studies in eleven families with mongolism in more than one member. Acta Paediat. Stockholm, 51: 180.CrossRefGoogle ScholarPubMed
Gedda, L., Calabresi, F., Del Porto, G., Del Porto-Mercuri, A., Alfieri, A., Torrioli-Riggio, G., Romei, L. (1967). On a case of a rare chromosomal aberration. Acta Genet. Med. Gemellol., 16: 1.CrossRefGoogle ScholarPubMed
Jackson, J. F., Pepper Ashford, W. (1967). Familial mongolism due to 21/22 chromosome translocation. J.A.M.A., 200: 722.CrossRefGoogle ScholarPubMed
Lejeune, J. (1963). Autosomal disorders. Pediatrics, 32: 326.CrossRefGoogle ScholarPubMed
Mikkelsen, M. (1967). Down's syndrome at young maternal age: cytogenetical and genealogical study of eighty-one families. Ann. Hum. Genet. London, 31: 51.CrossRefGoogle Scholar
Ong, B. H. (1967). Clinical comparisons of trisomic and translocation Down's syndrome (Mongolism). Clin. Proc. Child. Hosp. Wash., 23: 49.Google Scholar
Penrose, L. S. (1962). Paternal age in mongolism. Lancet, 1: 1101.CrossRefGoogle ScholarPubMed
Pfeiffer, K. A. (1963). The transmission of G/G translocation. Lancet, 1: 1163.CrossRefGoogle ScholarPubMed
Reisman, L. E. (1967). Genetic counseling and Down's syndrome. G.P., 34: 172.Google Scholar
Ricci, N., Ventimiglia, B., Dallapiccola, B. (1967). Studio citogenetico di 140 pazienti affetti da sindrome di Down. Acta Genet. Med. Gemellol., 16: 376.CrossRefGoogle ScholarPubMed
Rosner, F., Ong, B. H. (1967). Dermatoglyphic patterns in trisomic and translocation Down's syndrome (Mongolism). Amer. J. Med. Sci., 253: 72.CrossRefGoogle ScholarPubMed
Schuler, D., Gàcs, G. (1967). Mosaicism. Acta Paediat. Acad. Sci. Hung., 8: 53.Google Scholar
Smith, D. W. (1964). Autosomal abnormalities. Amer. J. Obstet. Gynec., 90: 1055.CrossRefGoogle ScholarPubMed
Van Gelderen, H. H., Gaillard, J. L. J., Schaberg, A. (1967). Trisomy G/normal mosaics in non-mongoloid mentally deficient children. Acta Paediat. Scand., 56: 517.CrossRefGoogle ScholarPubMed
Waxman, S. H., Arakaki, D. T. (1966). Familial mongolism by a G/G mosaic carrier. J. Pediat., 69: 274.CrossRefGoogle Scholar
Wright, S. W., Day, R. W., Muller, H., Weinhouse, R. (1967). The frequency of trisomy and translocation in Down's syndrome. J. Pediat., 70: 420.CrossRefGoogle ScholarPubMed
Zellweger, H. (1962). Familial mongolism. Lancet, 2: 660.CrossRefGoogle Scholar
Zellweger, H. (1966). Familial chromosomal aberrations. Ann. Paediat., 206: 317.Google ScholarPubMed
Zellweger, H. (1966). Indications for chromosomal analysis in mongolism. Alabama J. Med. Sci., 3: 505.Google ScholarPubMed